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53 Possible Causes for Abdominal Pain, Agenesis of Corpus Callosum, Proximally Placed Thumb

  • Smith Lemli Opitz Syndrome

    […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] placed thumbs.[orpha.net] She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral[ncbi.nlm.nih.gov]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth.[icdlist.com] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003, Adam[ncbi.nlm.nih.gov]

  • Gorlin-Chaudhry-Moss Syndrome

    This report describes a case of recurrent abdominal pain due to a large mesenteric cyst in a 38-year-old female patient affected by a rare disease: Gorlin-Goltz syndrome.[read.qxmd.com] CT scan identified agenesis of the corpus callosum. At age 21 she had moderate mental retardation and spoke in short phrases with unclear speech.[nature.com] Otopalatodigital syndrome type I (OPD1): Digital anomalies including short, often proximally placed thumbs with hypoplasia of the distal phalanges.[vivavoceoralmedicineradiology.com]

  • Syndromic Microphthalmia Type 10

    pain Neonatal hypotonia Dyspnea Autistic behavior Ventricular hypertrophy Left ventricular hypertrophy Congenital muscular dystrophy Abnormality of the foot Developmental[mendelian.co] […] of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.[malacards.org] placed thumbs, short distal phalanges - - - 1B (sister of 1A) 16q11.1q12.1 550 band karyotype ND Proximally placed thumbs, short distal phalanges - - 2 16q11.2q21 CGH/FISH[bmcmedgenet.biomedcentral.com]

  • Dursun Syndrome

    In the history, when he was 6 years old investigated with abdominal pain, ascites and fever.[panafrican-med-journal.com] […] of the corpus callosum; mental retardation (61 %) ocular abnormalities (59 %): microphthalmia, coloboma, choristomas, epibulbar tumors cardiovascular abnormalities (12 %)[sites.uclouvain.be] Facial dysmorphism with hypertelorism, a broad nasal bridge and a high-arched palate, malformations of the hand with long fingers, proximally placed thumbs and a single palmar[symptoma.com]

  • Psychomotor Retardation

    Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.[hereditasjournal.biomedcentral.com] In addition, patients with depression experience a greater number of somatic symptoms, including back and chest pain, abdominal pain, headache, fatigue, and weakness, than[ncbi.nlm.nih.gov] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Congenital Primary Aphakia

    pain *abdominalgia 【腹部外傷】*abdominal trauma 【腹部狭心症】*abdominal angina 【腹部出血】*abdominal hemorrhage *abdominal bleeding 【腹部腫瘍】*abdominal tumor 【腹部疝痛】*celialgia 【腹部大動脈瘤】*abdominal[medo.jp] […] of corpus callosum, mental retardation: autosomal-recessive disease) With abnormal facial profile · Cornelia de Lange syndrome. · Robinow syndrome. · Fetal alcohol syndrome[fetalultrasound.com] It can be associated with coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay[bredagenetics.com]

  • Waisman Syndrome

    Patients recorded degree of abdominal pain, stool urgency, consistency, and frequency.[link.springer.com] […] of the corpus callosum with peripheral neuropathy 218000 S LC16A2 Xq13.2 Allan-Herndon-Dudley syndrome 300523 S LC17A5 6q13 Salla disease 604369 Sialic acid storage disorder[institutobernabeu.com] The thumb was proximal- ly placed. There was bilateral syndactyly of the 2nd and 3rd toes.[dokumen.tips]

  • Genee-Wiedemann Syndrome

    Clinical: Firm skin plaques over entire body, but most frequently on trunk, lower extremities, upper extremities, face, and genitalia; abdominal pain; migraine; generalized[dentisty.org] ., agenesis of the corpus callosum and proteinuria), the disorders are now considered to represent the same entity ( Kantarci et al., 2007 ).[mendelian.co] In addition, the thumb may be small and proximally placed.[link.springer.com]

  • Tracheoesophageal Fistula

    Numbing medicines (local anesthesia) will be used so that the baby does not feel pain.[mountsinai.org] We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis.[ncbi.nlm.nih.gov] Limb anomalies (hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb).[lecturio.com]

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